Associated Papers
ATP allosterically regulates an acyl-CoA oxidase.
Perez DH et al.
Nature Communications, 2025
A multi-faceted approach to unravel coding and non-coding gene fusions and target chimeric proteins in ataxia.
Gullulu O et al.
Journal of Biomolecular Structure & Dynamics, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant.
Gong Z et al.
The Journal of Dermatology, 2025
ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.
Filippi C et al.
American Journal of Medical Genetics. Part A, 2024
Variant functional assessment in Drosophila by overexpression: what can we learn?
Her Y et al.
Genome, 2024
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Thiels C et al.
Neuropediatrics, 2024
Progress in leukodystrophies with zebrafish.
Shih HY et al.
Development, Growth & Differentiation, 2024
Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model.
Raas Q et al.
Frontiers in Pediatrics, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review.
Shen M et al.
Bmc Medical Genomics, 2023
Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy.
Jafarpour S et al.
Neurology, 2022
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.
Manor J et al.
Journal of Neuroscience Research, 2021
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Chung HL et al.
Neuron, 2020
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